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	About Us Patient Services Outreach Physician/ Client Services Collection Info Testing Test Directory Technical Updates Employment		Laboratory Test Directory Procedure Name: Alagille Syndrome Ulticare Name: Alagille Syndrome   Testing Info: Testing Location Specimen Type Collection Container Optional Container Preferred Volume Minimum Volume Genetics Whole Blood Purple Top   10 mL 1 mL Genetics Amniotic Fluid Sterile Container   3 mL 3 mL Genetics Cultured Cells T25 Flask       Genetics CVS Sterile Container   2 mm Tissue   Specimen Processing: Spec. Type Optimal Volume Minimum Volume Processing Info Storage Info Sample Stability Shipping Instructions Reference Lab Setup Cultured Cells 3 mL 3 mL   Ambient   Ambient   CVS 2 mm 2 mm   Ambient   Ambient   Amniotic Fluid 3 mL 3 mL   Ambient   Ambient   Whole Blood 10 mL 5 mL   Ambient   Ambient   L / CPT Codes: Lab Service Code(s)/(Qty): CPT Code(s): 0411L9173(1) 83891 6Z 0411L9174(4) 83894 6Z 0411L9409(14) 83898 6Z 0411L9175(44) 83904 6Z 0411L9176(1) 83912 6Z Additional Details: Collection Instructions: Transport at room temperature. Test Availability: As needed Turnaround Time: 6 weeks Interpretive Info: Sequencing the Jag 1 gene identifies cited and uncited DNA mutations and polymorphisms at each nucleotide position in the coding sequence and adjacent intron regions with greater than 99% sensitivity. However, individuals with a deletion of large sections or the entire gene will not be detected by sequencing (3-7% of cases). Alagille syndrome (AGS, OMIM 118450) is a multi-system developmental disorder that affects 1 in 70,000 live births (when ascertained by neonatal jaundice, true incidence is likely higher) and is one of the most common genetic causes of liver disease in childhood. The disease is characterized by reduction of bile ducts in the liver accompained by heart defects (most commonly pulmonary valves, artery and its branches). Other symptoms can include posterior embryotoxon (defect in the anterior chamber of the eye), butterfly vertebrae and characterisitc "triangular" facial features due to a high broad forehead, wide spaced eyes and a pointed chin. Notes: Less frequently there is renal, neurovascular or pancreatic involvement. These conditions are a result of mutations in the Jagged 1 gene (JAG1) (OMIM 601920) located at chromosome 20p12. The protein acts as a ligand for the Notch proteins in cell fate decision pathways during normal development of the heart, liver, skeleton, face and pancreas. Inheritance is autosomal dominant; however, 60-70% display de novo mutations. In addition, expression is often variable, frequently leading to individuals who only have isolated features and do not meet the classical criterion for Alagille Syndrome. Overall 3-7% of patients show a complete deletion of the gene; the remainder of the patients have a variety of missense and small deletion mutations often resulting in deletions of exons. Typical reasons for referral include (1) children with jaundice or posterior embryotoxon (2) children with heart problems (3) to establish the risk of Alagille syndrome in other family members.

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